Canonical Allele Identifier: CA2693642856

Gene: WAS

Linked Data

• gnomAD v4: X-48684033-TCTTCCTCTCCTCCTTCTCTCTCTTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48684036_48684062del , CM000685.2:g.48684036_48684062del	GRCh38
NC_000023.10:g.48542425_48542451del , CM000685.1:g.48542425_48542451del	GRCh37
NC_000023.9:g.48427369_48427395del	NCBI36
NG_007877.1:g.5240_5266del , LRG_125:g.5240_5266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483750.6:n.165+51_165+77del
ENST00000698625.1:c.132+51_132+77del	ENSP00000513844.1:n.132+51_132+77del
ENST00000698626.1:c.132+51_132+77del	ENSP00000513845.1:n.132+51_132+77del
ENST00000698635.1:c.132+51_132+77del	ENSP00000513850.1:n.132+51_132+77del
ENST00000376701.5:c.132+51_132+77del MANE Select	ENSP00000365891.4:n.132+51_132+77del
ENST00000376701.4:c.132+51_132+77del	ENSP00000365891.4:n.132+51_132+77del
ENST00000450772.5:c.132+51_132+77del	ENSP00000410537.1:n.132+51_132+77del
ENST00000465982.5:n.167+51_167+77del
ENST00000483750.5:n.158+51_158+77del
NM_000377.2:c.132+51_132+77del , LRG_125t1:c.132+51_132+77del	NP_000368.1:n.132+51_132+77del
XM_011543977.1:c.132+51_132+77del	XP_011542279.1:n.132+51_132+77del
XM_011543977.2:c.132+51_132+77del	XP_011542279.1:n.132+51_132+77del
XM_017029786.1:c.132+51_132+77del	XP_016885275.1:n.132+51_132+77del
NM_000377.3:c.132+51_132+77del MANE Select	NP_000368.1:n.132+51_132+77del